D42D (p.Asp42Asp) variant of ATL1 (Atlastin-1)
D42D (p.Asp42Asp) in ATL1 (Atlastin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
D42D (p.Asp42Asp) variant details
- p.Asp42Asp
- rs1330331510
- gnomAD 14-50587922-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.119
- CADD 5.42
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available